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Browsing by Author Wijk, E. van
Showing results 1 to 19 of 19
| Full Text | Issue Date | Title | Author(s) | | 2011 | Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina | Overlack, N.; Kilic, D.; Bauss, K.; Marker, T.; Kremer, J.M.J., et al |
| 2010 | Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. | Schraders, M.; Oostrik, J.; Huygen, P.L.M.; Strom, T.M.; Wijk, E. van, et al |
| 2010 | Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin | Aller, E.; Jaijo, T.; Wijk, E. van; Ebermann, I.; Kersten, F.F.J., et al |
| 2010 | Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network. | Kersten, F.F.J.; Wijk, E. van; Reeuwijk, J. van; Zwaag, B. van der; Marker, T., et al |
| 2008 | A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. | Maerker, T.; Wijk, E. van; Overlack, N.; Kersten, F.F.J.; McGee, J., et al |
| 2007 | MPP1 links the Usher protein network and the Crumbs protein complex in the retina. | Gosens, I.; Wijk, E. van; Kersten, F.F.J.; Krieger, E.; Zwaag, B. van der, et al |
| 2007 | Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. | Hollander, A.I. den; Koenekoop, R.K.; Mohamed, M.D.; Arts, H.H.; Boldt, K., et al |
| 2007 | MPP1 links the Usher protein network and the Crumbs protein complex in the retina. | Gosens, I.; Wijk, E. van; Kersten, F.F.J.; Krieger, E.; Zwaag, B. van der, et al |
| 2007 | Development of a genotyping microarray for Usher syndrome. | Cremers, F.P.M.; Kimberling, W.J.; Kulm, M.; Brouwer, A.P.M. de; Wijk, E. van, et al |
| 2006 | The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. | Wijk, E. van; Zwaag, B. van der; Peters, T.A.; Zimmermann, U.; Brinke, H. te, et al |
| 2006 | Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. | Kalay, E.; Li, Y.; Uzumcu, A.; Uyguner, O.; Collin, R.W.J., et al |
| 2006 | Cochleovestibular and ocular features in a Dutch DFNA11 family. | Bischoff, A.M.L.C.; Pennings, R.J.E.; Huygen, P.L.M.; Luijendijk, M.W.J.; Wijk, E. van, et al |
| 2006 | Usher syndrome: molecular links of pathogenesis, proteins and pathways. | Kremer, H.; Wijk, E. van; Marker, T.; Wolfrum, U.; Roepman, R. |
| 2005 | Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. | Reiners, J.; Wijk, E. van; Marker, T.; Zimmermann, U.; Jurgens, K., et al |
| 2004 | Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. | Wijk, E. van; Pennings, R.J.E.; Brinke, H. te; Claassen, A.M.W.; Yntema, H.G., et al |
| 2004 | A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. | Kemperman, M.H.; Leenheer, E. de; Huygen, P.L.M.; Wijk, E. van; Duijnhoven, G.C.F. van, et al |
| 2004 | Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11) | Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M., et al |
| 2004 | Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). | Luijendijk, M.W.J.; Wijk, E. van; Bischoff, A.M.L.C.; Krieger, E.; Huygen, P.L.M., et al |
| 2004 | Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations. | Stinckens, C.I.C.; Kremer, J.M.J.; Wijk, E. van; Hoefsloot, L.H.; Huygen, P.L.M., et al |
Showing results 1 to 19 of 19
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